婴儿期进行性肌营养不良并心衰1例

A case of progressive muscular dystrophy with heart failure in infancy

抗肌萎缩蛋白基因(DMD)突变可导致杜氏肌营养不良(DMD),该病是一种隐性遗传代谢病,临床表现为肌肉退行性病变,新生儿期由于肌肉病变不明显,常导致误诊、漏诊,本文报道了1例在新生儿期出现肌张力减低、心律失常、心功能不全等临床表现的患儿,经基因筛查为DMD基因c.2862G>A位点半合变异,明确诊断为杜氏肌营养不良、扩张型心肌病,经治疗好转出院。

Duchenne muscular dystrophy,a recessive metabolic disease characterized by muscular degeneration,is caused by mutations in the anti-muscular dystrophy gene(DMD).In this paper,we report A case of a child with clinical manifestations of hypotonia,arrhythmia,and cardiac insufficiency in the neonatal period.After genetic screening,DMD gene c.2862G>A mutation,the child was diagnosed as Duchenne muscular dystrophy and dilated cardiomyopathy,and was discharged after treatment.